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We report the case of a 15-year-old girl with an uneventful family history. Her skin condition was clinically, histologically and ultrastructurally compatible with the diagnosis of ichthyosis congenita. She suffered from neurosensory deafness and oligophrenia. Further findings included dental aplasia, brachydactyly, clinodactyly and accessory cervical ribs. At the age of 14, a thyroid carcinoma was diagnosed. Therapy with a retinoid derivative (Ro 10–9359) resulted in a marked improvement of the ichthyosis. We assume a genetic syndrome with autosomal-recessive inheritance.

Ultrastructural studies on a familiar case of Epidermolysis bullosa dystrophica dominans have demonstrated that normal anchoring fibrils are missing in the junctional area beneath the basal lamina; some rudimentary fibrils without typical banding patterns may be found occasionally. All other junctional structures, i.e. half desmosomes, plasmamembrane, anchoring filaments, and basal lamina, are of normal ultra-structure. The bulla is formed subepidermally, the basal lamina remaining at the top of the bulla.

Ultrastructural evidence is presented for significant distinction of autosomal dominant ichthyosis vulgaris (ADI) and x-linked recessive ichthyosis (XRI). In the case of ADI a severe disturbance of keratohyalin synthesis reults in a largely reduced deposition of minute abnormal keratohyalin granules of crumbly appearance; on the contrary, keratohyalin in XRI is synthesized in normal or increased amounts. The mode of inheritance has been confirmed by genetic analysis of the patient’s families.